Dr. Nelson participates in a variety of clinical research focusing on both the discovery of underlying molecular mechanism of disease and on validation of new technologies and assays for implementation in the clinical molecular genetics laboratory.
A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.
Sinclair GB and van Karnebeek CD and Ester M and Boyd F and Nelson T and Stockler-Ipsiroglu S and Vallance H
Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features.
Tucker T and Steinraths M and Oh T and Nelson TN and Van Allen MI and Brown L and Schlade-Bartusiak K
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
Boycott K and Hartley T and Adam S and Bernier F and Chong K and Fernandez BA and Friedman JM and Geraghty MT and Hume S and Knoppers BM and Laberge AM and Majewski J and Mendoza-Londono R and Meyn MS and Michaud JL and Nelson TN and Richer J and Sadikovic B and Skidmore DL and Stockley T
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.
Lerner-Ellis J and Wang M and White S and Lebo MS and Canadian Open Genetics Repository Group
CCMG statement on direct-to-consumer genetic testing.
CCMG Ethics and Public Policy Committee and Nelson TN and Armstrong L and Richer J and Evans J and Lauzon J and McGillivray B and Bruyere H and Dougan S
Use of array genomic hybridization technology in prenatal diagnosis in Canada.
Duncan A and Langlois S and SOGC Genetics Committee and CCMG Prenatal Diagnosis Committee
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
McLarren KW and Severson TM and du Souich C and Stockton DW and Kratz LE and Cunningham D and Hendson G and Morin RD and Wu D and Paul JE and An J and Nelson TN and Chou A and DeBarber AE and Merkens LS and Michaud JL and Waters PJ and Yin J and McGillivray B and Demos M
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
du Souich C and Chou A and Yin J and Oh T and Nelson TN and Hurlburt J and Arbour L and Friedlander R and McGillivray BC and Tyshchenko N and Rump A and Poskitt KJ and Demos MK and Van Allen MI and Boerkoel CF
A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
Demos MK and Macri V and Farrell K and Nelson TN and Chapman K and Accili E and Armstrong L
Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.
Schrader KA and Nelson TN and De Luca A and Huntsman DG and McGillivray BC
V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.
Huculak C and Bruyere H and Nelson TN and Kozak FK and Langlois S
Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion.
Hewitt J and Ballard JN and Nelson TN and Smith VC and Griffiths TA and Pritchard S and Wu JK and Wadsworth LD and Casey B and MacGillivray RT
Stage-specific expression in Leishmania conferred by 3' untranslated regions of L. major leishmanolysin genes (GP63).
Kelly BL and Nelson TN and McMaster WR